Orion J. Buske
Toronto, ON, Canada
Last Updated: 09/26/2026
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Found 24 publications
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient Matchmaking.
Journal: Human mutation
Published: January 28, 2025
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Journal: Nature genetics
Published: October 21, 2024
Towards the international interoperability of clinical research networks for rare diseases: recommendations from the IRDiRC Task Force.
Journal: Orphanet journal of rare diseases
Published: August 01, 2022
The GA4GH Phenopacket schema defines a computable representation of clinical data.
Journal: Nature biotechnology
Published: June 15, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 15, 2021
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Journal: Human mutation
Published: October 12, 2021
PhenomeCentral: 7 years of rare disease matchmaking.
Journal: Human mutation
Published: October 06, 2021
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 15, 2021
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
Journal: Current protocols in human genetics
Published: September 04, 2019
PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.
Journal: American journal of human genetics
Published: April 12, 2018
Last Updated: 09/26/2026